Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.118503552G>ACA382806378KMT2Ac.7759G>A (p.Glu2587Lys)
c.7750G>A (p.Glu2584Lys)
c.1699G>A (p.Glu567Lys)
c.1957G>A (p.Glu653Lys)
c.7732G>A (p.Glu2578Lys)
c.7651G>A (p.Glu2551Lys)
n.7002G>A
c.7660G>A (p.Glu2554Lys)
c.7537G>A (p.Glu2513Lys)
n.1787G>A
c.5143G>A (p.Glu1715Lys)
c.7756G>A (p.Glu2586Lys)
c.5566G>A (p.Glu1856Lys)
c.5242G>A (p.Glu1748Lys)
11g.118503552G>CCA382806380KMT2Ac.7759G>C (p.Glu2587Gln)
c.7750G>C (p.Glu2584Gln)
c.1699G>C (p.Glu567Gln)
c.1957G>C (p.Glu653Gln)
c.7732G>C (p.Glu2578Gln)
c.7651G>C (p.Glu2551Gln)
n.7002G>C
c.7660G>C (p.Glu2554Gln)
c.7537G>C (p.Glu2513Gln)
n.1787G>C
c.5143G>C (p.Glu1715Gln)
c.7756G>C (p.Glu2586Gln)
c.5566G>C (p.Glu1856Gln)
c.5242G>C (p.Glu1748Gln)
11g.118503552G>TCA382806381KMT2Ac.7759G>T (p.Glu2587Ter)
c.7750G>T (p.Glu2584Ter)
c.1699G>T (p.Glu567Ter)
c.1957G>T (p.Glu653Ter)
c.7732G>T (p.Glu2578Ter)
c.7651G>T (p.Glu2551Ter)
n.7002G>T
c.7660G>T (p.Glu2554Ter)
c.7537G>T (p.Glu2513Ter)
n.1787G>T
c.5143G>T (p.Glu1715Ter)
c.7756G>T (p.Glu2586Ter)
c.5566G>T (p.Glu1856Ter)
c.5242G>T (p.Glu1748Ter)
11g.118503553A>CCA382806383KMT2Ac.7760A>C (p.Glu2587Ala)
c.7751A>C (p.Glu2584Ala)
c.1700A>C (p.Glu567Ala)
c.1958A>C (p.Glu653Ala)
c.7733A>C (p.Glu2578Ala)
c.7652A>C (p.Glu2551Ala)
n.7003A>C
c.7661A>C (p.Glu2554Ala)
c.7538A>C (p.Glu2513Ala)
n.1788A>C
c.5144A>C (p.Glu1715Ala)
c.7757A>C (p.Glu2586Ala)
c.5567A>C (p.Glu1856Ala)
c.5243A>C (p.Glu1748Ala)
11g.118503553A>GCA382806385KMT2Ac.7760A>G (p.Glu2587Gly)
c.7751A>G (p.Glu2584Gly)
c.1700A>G (p.Glu567Gly)
c.1958A>G (p.Glu653Gly)
c.7733A>G (p.Glu2578Gly)
c.7652A>G (p.Glu2551Gly)
n.7003A>G
c.7661A>G (p.Glu2554Gly)
c.7538A>G (p.Glu2513Gly)
n.1788A>G
c.5144A>G (p.Glu1715Gly)
c.7757A>G (p.Glu2586Gly)
c.5567A>G (p.Glu1856Gly)
c.5243A>G (p.Glu1748Gly)
11g.118503553A>TCA382806387KMT2Ac.7760A>T (p.Glu2587Val)
c.7751A>T (p.Glu2584Val)
c.1700A>T (p.Glu567Val)
c.1958A>T (p.Glu653Val)
c.7733A>T (p.Glu2578Val)
c.7652A>T (p.Glu2551Val)
n.7003A>T
c.7661A>T (p.Glu2554Val)
c.7538A>T (p.Glu2513Val)
n.1788A>T
c.5144A>T (p.Glu1715Val)
c.7757A>T (p.Glu2586Val)
c.5567A>T (p.Glu1856Val)
c.5243A>T (p.Glu1748Val)
dbSNP
11g.118503554G>ACA477359926KMT2Ac.7761G>A (p.Glu2587=)
c.7752G>A (p.Glu2584=)
c.1701G>A (p.Glu567=)
c.1959G>A (p.Glu653=)
c.7734G>A (p.Glu2578=)
c.7653G>A (p.Glu2551=)
n.7004G>A
c.7662G>A (p.Glu2554=)
c.7539G>A (p.Glu2513=)
n.1789G>A
c.5145G>A (p.Glu1715=)
c.7758G>A (p.Glu2586=)
c.5568G>A (p.Glu1856=)
c.5244G>A (p.Glu1748=)
dbSNP gnomAD v2 gnomAD v4
11g.118503554G>CCA382806390KMT2Ac.7761G>C (p.Glu2587Asp)
c.7752G>C (p.Glu2584Asp)
c.1701G>C (p.Glu567Asp)
c.1959G>C (p.Glu653Asp)
c.7734G>C (p.Glu2578Asp)
c.7653G>C (p.Glu2551Asp)
n.7004G>C
c.7662G>C (p.Glu2554Asp)
c.7539G>C (p.Glu2513Asp)
n.1789G>C
c.5145G>C (p.Glu1715Asp)
c.7758G>C (p.Glu2586Asp)
c.5568G>C (p.Glu1856Asp)
c.5244G>C (p.Glu1748Asp)
dbSNP
11g.118503554G=CA2003528001KMT2Ac.7761G= (p.Glu2587=)
c.7752G= (p.Glu2584=)
c.1701G= (p.Glu567=)
c.1959G= (p.Glu653=)
c.7734G= (p.Glu2578=)
c.7653G= (p.Glu2551=)
n.7004G=
c.7662G= (p.Glu2554=)
c.7539G= (p.Glu2513=)
n.1789G=
c.5145G= (p.Glu1715=)
c.7758G= (p.Glu2586=)
c.5568G= (p.Glu1856=)
c.5244G= (p.Glu1748=)
11g.118503554G>TCA382806388KMT2Ac.7761G>T (p.Glu2587Asp)
c.7752G>T (p.Glu2584Asp)
c.1701G>T (p.Glu567Asp)
c.1959G>T (p.Glu653Asp)
c.7734G>T (p.Glu2578Asp)
c.7653G>T (p.Glu2551Asp)
n.7004G>T
c.7662G>T (p.Glu2554Asp)
c.7539G>T (p.Glu2513Asp)
n.1789G>T
c.5145G>T (p.Glu1715Asp)
c.7758G>T (p.Glu2586Asp)
c.5568G>T (p.Glu1856Asp)
c.5244G>T (p.Glu1748Asp)
11g.118503555T>ACA382806392KMT2Ac.7762T>A (p.Ser2588Thr)
c.7753T>A (p.Ser2585Thr)
c.1702T>A (p.Ser568Thr)
c.1960T>A (p.Ser654Thr)
c.7735T>A (p.Ser2579Thr)
c.7654T>A (p.Ser2552Thr)
n.7005T>A
c.7663T>A (p.Ser2555Thr)
c.7540T>A (p.Ser2514Thr)
n.1790T>A
c.5146T>A (p.Ser1716Thr)
c.7759T>A (p.Ser2587Thr)
c.5569T>A (p.Ser1857Thr)
c.5245T>A (p.Ser1749Thr)
gnomAD v4
11g.118503555T>CCA6304420KMT2Ac.7762T>C (p.Ser2588Pro)
c.7753T>C (p.Ser2585Pro)
c.1702T>C (p.Ser568Pro)
c.1960T>C (p.Ser654Pro)
c.7735T>C (p.Ser2579Pro)
c.7654T>C (p.Ser2552Pro)
n.7005T>C
c.7663T>C (p.Ser2555Pro)
c.7540T>C (p.Ser2514Pro)
n.1790T>C
c.5146T>C (p.Ser1716Pro)
c.7759T>C (p.Ser2587Pro)
c.5569T>C (p.Ser1857Pro)
c.5245T>C (p.Ser1749Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
11g.118503555T>GCA382806393KMT2Ac.7762T>G (p.Ser2588Ala)
c.7753T>G (p.Ser2585Ala)
c.1702T>G (p.Ser568Ala)
c.1960T>G (p.Ser654Ala)
c.7735T>G (p.Ser2579Ala)
c.7654T>G (p.Ser2552Ala)
n.7005T>G
c.7663T>G (p.Ser2555Ala)
c.7540T>G (p.Ser2514Ala)
n.1790T>G
c.5146T>G (p.Ser1716Ala)
c.7759T>G (p.Ser2587Ala)
c.5569T>G (p.Ser1857Ala)
c.5245T>G (p.Ser1749Ala)
11g.118503555T=CA2003528005KMT2Ac.7762T= (p.Ser2588=)
c.7753T= (p.Ser2585=)
c.1702T= (p.Ser568=)
c.1960T= (p.Ser654=)
c.7735T= (p.Ser2579=)
c.7654T= (p.Ser2552=)
n.7005T=
c.7663T= (p.Ser2555=)
c.7540T= (p.Ser2514=)
n.1790T=
c.5146T= (p.Ser1716=)
c.7759T= (p.Ser2587=)
c.5569T= (p.Ser1857=)
c.5245T= (p.Ser1749=)
11g.118503556C>ACA382806397KMT2Ac.7763C>A (p.Ser2588Ter)
c.7754C>A (p.Ser2585Ter)
c.1703C>A (p.Ser568Ter)
c.1961C>A (p.Ser654Ter)
c.7736C>A (p.Ser2579Ter)
c.7655C>A (p.Ser2552Ter)
n.7006C>A
c.7664C>A (p.Ser2555Ter)
c.7541C>A (p.Ser2514Ter)
n.1791C>A
c.5147C>A (p.Ser1716Ter)
c.7760C>A (p.Ser2587Ter)
c.5570C>A (p.Ser1857Ter)
c.5246C>A (p.Ser1749Ter)
dbSNP
11g.118503556C>GCA382806400KMT2Ac.7763C>G (p.Ser2588Ter)
c.7754C>G (p.Ser2585Ter)
c.1703C>G (p.Ser568Ter)
c.1961C>G (p.Ser654Ter)
c.7736C>G (p.Ser2579Ter)
c.7655C>G (p.Ser2552Ter)
n.7006C>G
c.7664C>G (p.Ser2555Ter)
c.7541C>G (p.Ser2514Ter)
n.1791C>G
c.5147C>G (p.Ser1716Ter)
c.7760C>G (p.Ser2587Ter)
c.5570C>G (p.Ser1857Ter)
c.5246C>G (p.Ser1749Ter)
11g.118503556C>TCA382806407KMT2Ac.7763C>T (p.Ser2588Leu)
c.7754C>T (p.Ser2585Leu)
c.1703C>T (p.Ser568Leu)
c.1961C>T (p.Ser654Leu)
c.7736C>T (p.Ser2579Leu)
c.7655C>T (p.Ser2552Leu)
n.7006C>T
c.7664C>T (p.Ser2555Leu)
c.7541C>T (p.Ser2514Leu)
n.1791C>T
c.5147C>T (p.Ser1716Leu)
c.7760C>T (p.Ser2587Leu)
c.5570C>T (p.Ser1857Leu)
c.5246C>T (p.Ser1749Leu)
11g.118503557A>CCA477359929KMT2Ac.7764A>C (p.Ser2588=)
c.7755A>C (p.Ser2585=)
c.1704A>C (p.Ser568=)
c.1962A>C (p.Ser654=)
c.7737A>C (p.Ser2579=)
c.7656A>C (p.Ser2552=)
n.7007A>C
c.7665A>C (p.Ser2555=)
c.7542A>C (p.Ser2514=)
n.1792A>C
c.5148A>C (p.Ser1716=)
c.7761A>C (p.Ser2587=)
c.5571A>C (p.Ser1857=)
c.5247A>C (p.Ser1749=)
11g.118503557A>GCA477359930KMT2Ac.7764A>G (p.Ser2588=)
c.7755A>G (p.Ser2585=)
c.1704A>G (p.Ser568=)
c.1962A>G (p.Ser654=)
c.7737A>G (p.Ser2579=)
c.7656A>G (p.Ser2552=)
n.7007A>G
c.7665A>G (p.Ser2555=)
c.7542A>G (p.Ser2514=)
n.1792A>G
c.5148A>G (p.Ser1716=)
c.7761A>G (p.Ser2587=)
c.5571A>G (p.Ser1857=)
c.5247A>G (p.Ser1749=)
11g.118503557A>TCA477359931KMT2Ac.7764A>T (p.Ser2588=)
c.7755A>T (p.Ser2585=)
c.1704A>T (p.Ser568=)
c.1962A>T (p.Ser654=)
c.7737A>T (p.Ser2579=)
c.7656A>T (p.Ser2552=)
n.7007A>T
c.7665A>T (p.Ser2555=)
c.7542A>T (p.Ser2514=)
n.1792A>T
c.5148A>T (p.Ser1716=)
c.7761A>T (p.Ser2587=)
c.5571A>T (p.Ser1857=)
c.5247A>T (p.Ser1749=)
gnomAD v4
11g.118503558A=CA2003528006KMT2Ac.7765A= (p.Thr2589=)
c.7756A= (p.Thr2586=)
c.1705A= (p.Thr569=)
c.1963A= (p.Thr655=)
c.7738A= (p.Thr2580=)
c.7657A= (p.Thr2553=)
n.7008A=
c.7666A= (p.Thr2556=)
c.7543A= (p.Thr2515=)
n.1793A=
c.5149A= (p.Thr1717=)
c.7762A= (p.Thr2588=)
c.5572A= (p.Thr1858=)
c.5248A= (p.Thr1750=)
11g.118503558A>CCA6304421KMT2Ac.7765A>C (p.Thr2589Pro)
c.7756A>C (p.Thr2586Pro)
c.1705A>C (p.Thr569Pro)
c.1963A>C (p.Thr655Pro)
c.7738A>C (p.Thr2580Pro)
c.7657A>C (p.Thr2553Pro)
n.7008A>C
c.7666A>C (p.Thr2556Pro)
c.7543A>C (p.Thr2515Pro)
n.1793A>C
c.5149A>C (p.Thr1717Pro)
c.7762A>C (p.Thr2588Pro)
c.5572A>C (p.Thr1858Pro)
c.5248A>C (p.Thr1750Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118503558A>GCA382806409KMT2Ac.7765A>G (p.Thr2589Ala)
c.7756A>G (p.Thr2586Ala)
c.1705A>G (p.Thr569Ala)
c.1963A>G (p.Thr655Ala)
c.7738A>G (p.Thr2580Ala)
c.7657A>G (p.Thr2553Ala)
n.7008A>G
c.7666A>G (p.Thr2556Ala)
c.7543A>G (p.Thr2515Ala)
n.1793A>G
c.5149A>G (p.Thr1717Ala)
c.7762A>G (p.Thr2588Ala)
c.5572A>G (p.Thr1858Ala)
c.5248A>G (p.Thr1750Ala)
dbSNP gnomAD v3 gnomAD v4
11g.118503558A>TCA382806412KMT2Ac.7765A>T (p.Thr2589Ser)
c.7756A>T (p.Thr2586Ser)
c.1705A>T (p.Thr569Ser)
c.1963A>T (p.Thr655Ser)
c.7738A>T (p.Thr2580Ser)
c.7657A>T (p.Thr2553Ser)
n.7008A>T
c.7666A>T (p.Thr2556Ser)
c.7543A>T (p.Thr2515Ser)
n.1793A>T
c.5149A>T (p.Thr1717Ser)
c.7762A>T (p.Thr2588Ser)
c.5572A>T (p.Thr1858Ser)
c.5248A>T (p.Thr1750Ser)
11g.118503559C>ACA382806416KMT2Ac.7766C>A (p.Thr2589Lys)
c.7757C>A (p.Thr2586Lys)
c.1706C>A (p.Thr569Lys)
c.1964C>A (p.Thr655Lys)
c.7739C>A (p.Thr2580Lys)
c.7658C>A (p.Thr2553Lys)
n.7009C>A
c.7667C>A (p.Thr2556Lys)
c.7544C>A (p.Thr2515Lys)
n.1794C>A
c.5150C>A (p.Thr1717Lys)
c.7763C>A (p.Thr2588Lys)
c.5573C>A (p.Thr1858Lys)
c.5249C>A (p.Thr1750Lys)
dbSNP
11g.118503559C>GCA382806418KMT2Ac.7766C>G (p.Thr2589Arg)
c.7757C>G (p.Thr2586Arg)
c.1706C>G (p.Thr569Arg)
c.1964C>G (p.Thr655Arg)
c.7739C>G (p.Thr2580Arg)
c.7658C>G (p.Thr2553Arg)
n.7009C>G
c.7667C>G (p.Thr2556Arg)
c.7544C>G (p.Thr2515Arg)
n.1794C>G
c.5150C>G (p.Thr1717Arg)
c.7763C>G (p.Thr2588Arg)
c.5573C>G (p.Thr1858Arg)
c.5249C>G (p.Thr1750Arg)
11g.118503559C>TCA382806420KMT2Ac.7766C>T (p.Thr2589Ile)
c.7757C>T (p.Thr2586Ile)
c.1706C>T (p.Thr569Ile)
c.1964C>T (p.Thr655Ile)
c.7739C>T (p.Thr2580Ile)
c.7658C>T (p.Thr2553Ile)
n.7009C>T
c.7667C>T (p.Thr2556Ile)
c.7544C>T (p.Thr2515Ile)
n.1794C>T
c.5150C>T (p.Thr1717Ile)
c.7763C>T (p.Thr2588Ile)
c.5573C>T (p.Thr1858Ile)
c.5249C>T (p.Thr1750Ile)
dbSNP
11g.118503560A=CA2003528008KMT2Ac.7767A= (p.Thr2589=)
c.7758A= (p.Thr2586=)
c.1707A= (p.Thr569=)
c.1965A= (p.Thr655=)
c.7740A= (p.Thr2580=)
c.7659A= (p.Thr2553=)
n.7010A=
c.7668A= (p.Thr2556=)
c.7545A= (p.Thr2515=)
n.1795A=
c.5151A= (p.Thr1717=)
c.7764A= (p.Thr2588=)
c.5574A= (p.Thr1858=)
c.5250A= (p.Thr1750=)
11g.118503560A>CCA477359932KMT2Ac.7767A>C (p.Thr2589=)
c.7758A>C (p.Thr2586=)
c.1707A>C (p.Thr569=)
c.1965A>C (p.Thr655=)
c.7740A>C (p.Thr2580=)
c.7659A>C (p.Thr2553=)
n.7010A>C
c.7668A>C (p.Thr2556=)
c.7545A>C (p.Thr2515=)
n.1795A>C
c.5151A>C (p.Thr1717=)
c.7764A>C (p.Thr2588=)
c.5574A>C (p.Thr1858=)
c.5250A>C (p.Thr1750=)
11g.118503560A>GCA6304422KMT2Ac.7767A>G (p.Thr2589=)
c.7758A>G (p.Thr2586=)
c.1707A>G (p.Thr569=)
c.1965A>G (p.Thr655=)
c.7740A>G (p.Thr2580=)
c.7659A>G (p.Thr2553=)
n.7010A>G
c.7668A>G (p.Thr2556=)
c.7545A>G (p.Thr2515=)
n.1795A>G
c.5151A>G (p.Thr1717=)
c.7764A>G (p.Thr2588=)
c.5574A>G (p.Thr1858=)
c.5250A>G (p.Thr1750=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.118503560A>TCA477359933KMT2Ac.7767A>T (p.Thr2589=)
c.7758A>T (p.Thr2586=)
c.1707A>T (p.Thr569=)
c.1965A>T (p.Thr655=)
c.7740A>T (p.Thr2580=)
c.7659A>T (p.Thr2553=)
n.7010A>T
c.7668A>T (p.Thr2556=)
c.7545A>T (p.Thr2515=)
n.1795A>T
c.5151A>T (p.Thr1717=)
c.7764A>T (p.Thr2588=)
c.5574A>T (p.Thr1858=)
c.5250A>T (p.Thr1750=)
11g.118503561T>ACA382806431KMT2Ac.7768T>A (p.Ser2590Thr)
c.7759T>A (p.Ser2587Thr)
c.1708T>A (p.Ser570Thr)
c.1966T>A (p.Ser656Thr)
c.7741T>A (p.Ser2581Thr)
c.7660T>A (p.Ser2554Thr)
n.7011T>A
c.7669T>A (p.Ser2557Thr)
c.7546T>A (p.Ser2516Thr)
n.1796T>A
c.5152T>A (p.Ser1718Thr)
c.7765T>A (p.Ser2589Thr)
c.5575T>A (p.Ser1859Thr)
c.5251T>A (p.Ser1751Thr)
11g.118503561T>CCA382806433KMT2Ac.7768T>C (p.Ser2590Pro)
c.7759T>C (p.Ser2587Pro)
c.1708T>C (p.Ser570Pro)
c.1966T>C (p.Ser656Pro)
c.7741T>C (p.Ser2581Pro)
c.7660T>C (p.Ser2554Pro)
n.7011T>C
c.7669T>C (p.Ser2557Pro)
c.7546T>C (p.Ser2516Pro)
n.1796T>C
c.5152T>C (p.Ser1718Pro)
c.7765T>C (p.Ser2589Pro)
c.5575T>C (p.Ser1859Pro)
c.5251T>C (p.Ser1751Pro)
11g.118503561T>GCA382806435KMT2Ac.7768T>G (p.Ser2590Ala)
c.7759T>G (p.Ser2587Ala)
c.1708T>G (p.Ser570Ala)
c.1966T>G (p.Ser656Ala)
c.7741T>G (p.Ser2581Ala)
c.7660T>G (p.Ser2554Ala)
n.7011T>G
c.7669T>G (p.Ser2557Ala)
c.7546T>G (p.Ser2516Ala)
n.1796T>G
c.5152T>G (p.Ser1718Ala)
c.7765T>G (p.Ser2589Ala)
c.5575T>G (p.Ser1859Ala)
c.5251T>G (p.Ser1751Ala)
11g.118503562C>ACA382806451KMT2Ac.7769C>A (p.Ser2590Tyr)
c.7760C>A (p.Ser2587Tyr)
c.1709C>A (p.Ser570Tyr)
c.1967C>A (p.Ser656Tyr)
c.7742C>A (p.Ser2581Tyr)
c.7661C>A (p.Ser2554Tyr)
n.7012C>A
c.7670C>A (p.Ser2557Tyr)
c.7547C>A (p.Ser2516Tyr)
n.1797C>A
c.5153C>A (p.Ser1718Tyr)
c.7766C>A (p.Ser2589Tyr)
c.5576C>A (p.Ser1859Tyr)
c.5252C>A (p.Ser1751Tyr)
11g.118503562C>GCA382806465KMT2Ac.7769C>G (p.Ser2590Cys)
c.7760C>G (p.Ser2587Cys)
c.1709C>G (p.Ser570Cys)
c.1967C>G (p.Ser656Cys)
c.7742C>G (p.Ser2581Cys)
c.7661C>G (p.Ser2554Cys)
n.7012C>G
c.7670C>G (p.Ser2557Cys)
c.7547C>G (p.Ser2516Cys)
n.1797C>G
c.5153C>G (p.Ser1718Cys)
c.7766C>G (p.Ser2589Cys)
c.5576C>G (p.Ser1859Cys)
c.5252C>G (p.Ser1751Cys)
11g.118503562C>TCA382806454KMT2Ac.7769C>T (p.Ser2590Phe)
c.7760C>T (p.Ser2587Phe)
c.1709C>T (p.Ser570Phe)
c.1967C>T (p.Ser656Phe)
c.7742C>T (p.Ser2581Phe)
c.7661C>T (p.Ser2554Phe)
n.7012C>T
c.7670C>T (p.Ser2557Phe)
c.7547C>T (p.Ser2516Phe)
n.1797C>T
c.5153C>T (p.Ser1718Phe)
c.7766C>T (p.Ser2589Phe)
c.5576C>T (p.Ser1859Phe)
c.5252C>T (p.Ser1751Phe)
dbSNP
11g.118503563T>ACA477359936KMT2Ac.7770T>A (p.Ser2590=)
c.7761T>A (p.Ser2587=)
c.1710T>A (p.Ser570=)
c.1968T>A (p.Ser656=)
c.7743T>A (p.Ser2581=)
c.7662T>A (p.Ser2554=)
n.7013T>A
c.7671T>A (p.Ser2557=)
c.7548T>A (p.Ser2516=)
n.1798T>A
c.5154T>A (p.Ser1718=)
c.7767T>A (p.Ser2589=)
c.5577T>A (p.Ser1859=)
c.5253T>A (p.Ser1751=)
11g.118503563T>CCA477359937KMT2Ac.7770T>C (p.Ser2590=)
c.7761T>C (p.Ser2587=)
c.1710T>C (p.Ser570=)
c.1968T>C (p.Ser656=)
c.7743T>C (p.Ser2581=)
c.7662T>C (p.Ser2554=)
n.7013T>C
c.7671T>C (p.Ser2557=)
c.7548T>C (p.Ser2516=)
n.1798T>C
c.5154T>C (p.Ser1718=)
c.7767T>C (p.Ser2589=)
c.5577T>C (p.Ser1859=)
c.5253T>C (p.Ser1751=)
11g.118503563T>GCA477359938KMT2Ac.7770T>G (p.Ser2590=)
c.7761T>G (p.Ser2587=)
c.1710T>G (p.Ser570=)
c.1968T>G (p.Ser656=)
c.7743T>G (p.Ser2581=)
c.7662T>G (p.Ser2554=)
n.7013T>G
c.7671T>G (p.Ser2557=)
c.7548T>G (p.Ser2516=)
n.1798T>G
c.5154T>G (p.Ser1718=)
c.7767T>G (p.Ser2589=)
c.5577T>G (p.Ser1859=)
c.5253T>G (p.Ser1751=)
gnomAD v4
11g.118503564C>ACA382806468KMT2Ac.7771C>A (p.Pro2591Thr)
c.7762C>A (p.Pro2588Thr)
c.1711C>A (p.Pro571Thr)
c.1969C>A (p.Pro657Thr)
c.7744C>A (p.Pro2582Thr)
c.7663C>A (p.Pro2555Thr)
n.7014C>A
c.7672C>A (p.Pro2558Thr)
c.7549C>A (p.Pro2517Thr)
n.1799C>A
c.5155C>A (p.Pro1719Thr)
c.7768C>A (p.Pro2590Thr)
c.5578C>A (p.Pro1860Thr)
c.5254C>A (p.Pro1752Thr)
11g.118503564C=CA2003528009KMT2Ac.7771C= (p.Pro2591=)
c.7762C= (p.Pro2588=)
c.1711C= (p.Pro571=)
c.1969C= (p.Pro657=)
c.7744C= (p.Pro2582=)
c.7663C= (p.Pro2555=)
n.7014C=
c.7672C= (p.Pro2558=)
c.7549C= (p.Pro2517=)
n.1799C=
c.5155C= (p.Pro1719=)
c.7768C= (p.Pro2590=)
c.5578C= (p.Pro1860=)
c.5254C= (p.Pro1752=)
11g.118503564C>GCA382806471KMT2Ac.7771C>G (p.Pro2591Ala)
c.7762C>G (p.Pro2588Ala)
c.1711C>G (p.Pro571Ala)
c.1969C>G (p.Pro657Ala)
c.7744C>G (p.Pro2582Ala)
c.7663C>G (p.Pro2555Ala)
n.7014C>G
c.7672C>G (p.Pro2558Ala)
c.7549C>G (p.Pro2517Ala)
n.1799C>G
c.5155C>G (p.Pro1719Ala)
c.7768C>G (p.Pro2590Ala)
c.5578C>G (p.Pro1860Ala)
c.5254C>G (p.Pro1752Ala)
11g.118503564C>TCA382806472KMT2Ac.7771C>T (p.Pro2591Ser)
c.7762C>T (p.Pro2588Ser)
c.1711C>T (p.Pro571Ser)
c.1969C>T (p.Pro657Ser)
c.7744C>T (p.Pro2582Ser)
c.7663C>T (p.Pro2555Ser)
n.7014C>T
c.7672C>T (p.Pro2558Ser)
c.7549C>T (p.Pro2517Ser)
n.1799C>T
c.5155C>T (p.Pro1719Ser)
c.7768C>T (p.Pro2590Ser)
c.5578C>T (p.Pro1860Ser)
c.5254C>T (p.Pro1752Ser)
dbSNP gnomAD v2 gnomAD v4
11g.118503565C>ACA382806476KMT2Ac.7772C>A (p.Pro2591His)
c.7763C>A (p.Pro2588His)
c.1712C>A (p.Pro571His)
c.1970C>A (p.Pro657His)
c.7745C>A (p.Pro2582His)
c.7664C>A (p.Pro2555His)
n.7015C>A
c.7673C>A (p.Pro2558His)
c.7550C>A (p.Pro2517His)
c.5156C>A (p.Pro1719His)
c.7769C>A (p.Pro2590His)
c.5579C>A (p.Pro1860His)
c.5255C>A (p.Pro1752His)
11g.118503565C=CA2003528011KMT2Ac.7772C= (p.Pro2591=)
c.7763C= (p.Pro2588=)
c.1712C= (p.Pro571=)
c.1970C= (p.Pro657=)
c.7745C= (p.Pro2582=)
c.7664C= (p.Pro2555=)
n.7015C=
c.7673C= (p.Pro2558=)
c.7550C= (p.Pro2517=)
c.5156C= (p.Pro1719=)
c.7769C= (p.Pro2590=)
c.5579C= (p.Pro1860=)
c.5255C= (p.Pro1752=)
11g.118503565C>GCA382806478KMT2Ac.7772C>G (p.Pro2591Arg)
c.7763C>G (p.Pro2588Arg)
c.1712C>G (p.Pro571Arg)
c.1970C>G (p.Pro657Arg)
c.7745C>G (p.Pro2582Arg)
c.7664C>G (p.Pro2555Arg)
n.7015C>G
c.7673C>G (p.Pro2558Arg)
c.7550C>G (p.Pro2517Arg)
c.5156C>G (p.Pro1719Arg)
c.7769C>G (p.Pro2590Arg)
c.5579C>G (p.Pro1860Arg)
c.5255C>G (p.Pro1752Arg)
11g.118503565C>TCA382806481KMT2Ac.7772C>T (p.Pro2591Leu)
c.7763C>T (p.Pro2588Leu)
c.1712C>T (p.Pro571Leu)
c.1970C>T (p.Pro657Leu)
c.7745C>T (p.Pro2582Leu)
c.7664C>T (p.Pro2555Leu)
n.7015C>T
c.7673C>T (p.Pro2558Leu)
c.7550C>T (p.Pro2517Leu)
c.5156C>T (p.Pro1719Leu)
c.7769C>T (p.Pro2590Leu)
c.5579C>T (p.Pro1860Leu)
c.5255C>T (p.Pro1752Leu)
dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.118503566C>ACA477359944KMT2Ac.7773C>A (p.Pro2591=)
c.7764C>A (p.Pro2588=)
c.1713C>A (p.Pro571=)
c.1971C>A (p.Pro657=)
c.7746C>A (p.Pro2582=)
c.7665C>A (p.Pro2555=)
n.7016C>A
c.7674C>A (p.Pro2558=)
c.7551C>A (p.Pro2517=)
c.5157C>A (p.Pro1719=)
c.7770C>A (p.Pro2590=)
c.5580C>A (p.Pro1860=)
c.5256C>A (p.Pro1752=)
dbSNP
11g.118503566C>GCA477359946KMT2Ac.7773C>G (p.Pro2591=)
c.7764C>G (p.Pro2588=)
c.1713C>G (p.Pro571=)
c.1971C>G (p.Pro657=)
c.7746C>G (p.Pro2582=)
c.7665C>G (p.Pro2555=)
n.7016C>G
c.7674C>G (p.Pro2558=)
c.7551C>G (p.Pro2517=)
c.5157C>G (p.Pro1719=)
c.7770C>G (p.Pro2590=)
c.5580C>G (p.Pro1860=)
c.5256C>G (p.Pro1752=)

Number of alleles fetched